The c.-190 C>A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia

Jamali, S. and Karimian, M. and Nikzad, H. and Aftabi, Y. (2016) The c.-190 C>A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia. Molecular Biology Reports, 43 (8). pp. 795-802.

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The genome condensation in the sperm head is resulted with replacing of histones by protamines during spermatogenesis. It is reported that defects in the protamine 1 (PRM1) and/or 2 (PRM2) genes cause male infertility. Located on chromosome 16 (16p13.2) these genes contain numerous unstudied single nucleotide polymorphisms. This study aimed to investigate the association of c.�190 C>A and g.298 G>C transversions that respectively occur in PRM1 and PRM2 genes with idiopathic oligozoospermia. In a case�control study, we collected blood samples from 130 idiopathic oligozoospermia and 130 fertile men. Detection of c.�190 C>A and g.298 G>C polymorphisms performed by direct sequencing and PCR�RFLP methods respectively. An in silico analysis was performed by ASSP, NetGene 2, and PNImodeler online web servers. Our data revealed that g.298 G>C transversion in PRM2 was not associated with oligozoospermia (P > 0.05). Whereas, �190CA and �190AA genotypes in PRM1 gene were associated significantly with increased risk of oligozoospermia (P = 0.0017 and 0.0103, respectively). Also carriers of A allele (CA+AA) for PRM1 c.�190 C>A were at a high risk for oligozoospermia (OR 3.2440, 95 CI 1.8060�5.8270, P = 0.0001). Further, in silico analysis revealed that c.�190 C>A transversion may alter transcription factor interactions with the promoter region of PRM1. The results revealed that the c.�190 C>A transversion may involve in the susceptibility for oligozoospermia and could be represented as a noninvasive molecular marker for genetic diagnosis of idiopathic oligozoospermia. © 2016, Springer Science+Business Media Dordrecht.

Item Type: Article
Additional Information: cited By 0
Subjects: Biochemistry, Genetics and Molecular Biology
Divisions: Faculty of Medicine > Basic Sciences > Department of physiology
Depositing User: editor . 2
Date Deposited: 04 Mar 2017 08:16
Last Modified: 04 Mar 2017 08:16

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